ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.248C>T (p.Ala83Val) (rs201717599)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200998 SCV000149625 likely benign not specified 2018-03-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001082818 SCV000166396 likely benign Li-Fraumeni syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115716 SCV000187107 likely benign Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)
Counsyl RCV000409540 SCV000489472 uncertain significance Li-Fraumeni syndrome 1 2016-10-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679367 SCV000806236 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
Color RCV000115716 SCV000910716 benign Hereditary cancer-predisposing syndrome 2016-01-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679367 SCV001134864 likely benign not provided 2019-05-09 criteria provided, single submitter clinical testing

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